autosomal recessive limb-girdle muscular dystrophy type 2L

Term ID

DOID:0110284

Synonyms

• LGMD2L
• muscular dystrophy, limb-girdle, type 2L

Definition

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14. https://www.ncbi.nlm.nih.gov/pubmed/20096397

References

• ICD10CM:G71.0
• OMIM:611307
• ORDO:206549

Ontology

Human Disease   ( DOID:0110284 )